Canonical Allele Identifier: CA389466311
Gene: PAX9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.37132290T>C (hg19) chr14:g.36663085T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663085T>C , CM000676.2:g.36663085T>C GRCh38
NC_000014.8:g.37132290T>C , CM000676.1:g.37132290T>C GRCh37
NC_000014.7:g.36202041T>C NCBI36
NG_013357.1:g.10518T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.193T>C MANE Select ENSP00000355245.6:p.Ser65Pro
ENST00000555639.2:c.193T>C ENSP00000501203.1:p.Ser65Pro
ENST00000361487.6:c.193T>C ENSP00000355245.6:p.Ser65Pro
ENST00000402703.6:c.193T>C ENSP00000384817.2:p.Ser65Pro
ENST00000554201.1:c.-369T>C ENSP00000450434.1:n.-369T>C
ENST00000555639.1:n.495T>C
NM_006194.3:c.193T>C NP_006185.1:p.Ser65Pro
NM_001372076.1:c.193T>C MANE Select NP_001359005.1:p.Ser65Pro
NM_006194.4:c.193T>C NP_006185.1:p.Ser65Pro
Search 100 bp 5'
Search 100 bp 3'